Identification of a homozygous missense mutation (p.Cys379Gly) in the D1 domain of von Willebrand factor propeptide in a family with type 2A (IIC) von Willebrand disease.
作者信息
Shigekiyo Toshio, Udaka Kengo, Sekimoto Etsuko, Shibata Hironobu, Ozaki Shuji, Higuchi Yukio, Matsumoto Masanori
机构信息
Department of Hematology, Tokushima Prefectural Central Hospital, Tokushima, Japan.
Department of Orthopedics, Tokushima Prefectural Central Hospital, Tokushima, Japan.
出版信息
Haemophilia. 2018 Nov;24(6):e422-e425. doi: 10.1111/hae.13605. Epub 2018 Sep 3.
PMID:30175488
Abstract
摘要
Zotero 插件